Canonical Allele Identifier: CA178041

Gene: STRC CKMT1B

Linked Data

• ClinVar Variation Id: 165304
• ClinVar RCV Id: RCV000151943
• dbSNP Id: rs74643365
• ExAC: 15:43893733 C / T
• gnomAD v2: 15-43893733-C-T
• gnomAD v3: 15-43601535-C-T
• gnomAD v4: 15-43601535-C-T
• MyVariant Identifiers: chr15:g.43893733C>T (hg19) ; chr15:g.43893733_43893734delinsTG (hg19) ; chr15:g.43601535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43601535C>T , CM000677.2:g.43601535C>T	GRCh38
NC_000015.9:g.43893733C>T , CM000677.1:g.43893733C>T	GRCh37
NC_000015.8:g.41681025C>T	NCBI36
NG_011636.1:g.22266G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450892.7:c.4562G>A (STRC) MANE Select	ENSP00000401513.2:p.Arg1521Gln
ENST00000411560.1:n.142+2002C>T (CKMT1B)
ENST00000428650.5:c.*1595G>A (STRC)	ENSP00000415991.1:n.*1595G>A
ENST00000440125.5:c.*2354G>A (STRC)	ENSP00000394866.1:n.*2354G>A
ENST00000448437.6:n.1682G>A (STRC)
ENST00000450892.6:c.4562G>A (STRC)	ENSP00000401513.2:p.Arg1521Gln
ENST00000460952.1:n.141G>A (STRC)
ENST00000471703.5:n.2516G>A (STRC)
ENST00000485556.5:n.3417G>A (STRC)
ENST00000493750.1:n.358G>A (STRC)
ENST00000541030.5:c.2243G>A (STRC)	ENSP00000440413.1:p.Arg748Gln
NM_153700.2:c.4562G>A (STRC) MANE Select	NP_714544.1:p.Arg1521Gln
XM_011521277.1:c.5051G>A (STRC)	XP_011519579.1:p.Arg1684Gln
XM_011521278.1:c.4667G>A (STRC)	XP_011519580.1:p.Arg1556Gln
XM_011521279.1:c.4667G>A (STRC)	XP_011519581.1:p.Arg1556Gln